Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names ABP/J    (Changed: 15-DEC-04 ) Type Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Type Inbred Strain; Additional information on Inbred Strains. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F136p Generation Definitions

Appearance
pink-eyed beige with belt, wavy fur, and short ears
Related Genotype: a/a Tyrp1^b/Tyrp1^b Adamts20^bt/Adamts20^bt Oca2^p/Oca2^p Bmp5^se/Bmp5^se Tgfa^wa1/Tgfa^wa1

Important Note
This strain is homozygous for Adamts20^bt, Bmp5^se and Tgfa^wa1.

Description
Mice homozygous for the Tgfa^wa1 spontaneous mutation are recognizable at 2 or 3 days of age by their curly whiskers. The first coat is strongly waved and straight in later coats. Most of the whiskers also become straight, but the guard hairs are curved and shorter than normal. Some homozygotes have eyelids open at birth.

Mice homozygous for the recessive Adamts20^bt mutation have a dorsal and a ventral unpigmented patch posterior to the midline of the trunk with the dorsal patch usually being larger than the ventral patch. These patches run in a more transverse orientation across the mouse than lengthwise and often extend around the sides of the mouse to form a white belt. The size of the patches can vary from approximately 1 to 20 percent of the surface. Unlike other spotting mutations, no variability in phenotype was identified when belted was transferred onto the C57BL/6J or JU/CtLm backgrounds (Lamoreaux 1999). Murray and Snell reported finding a small belly spot on a few heterozygotes so the Adamts20^bt mutation may not be entirely recessive.

Development
In 1954 Drs. William Murray and George Snell reported the belted mutation (Adamts20^bt) that arose spontaneously in strain DBA at The University of Maine. They combined the mutations pink-eyed dilution (p) and waved 1 (Tgfa^wa1) with belted into a linkage testing stock called BP. Waved 1 had been found in a mixed stock by Crew in 1933. Later in the 1960s brown (Tyrp1^b) and short ear (Bmps^se) from the SEC/1 strain were added by Dr. Allan Griffin and the stock was called ABP. ABP was probably sibling mated although no records are available. It was used specifically for testing in irradiation experiments. In 1969 it was taken by P. Lane and inbred as a multiple recessive inbred strain ABP/Le. It was cryopreserved at F64 in 1978 by mating homozygotes.

Control Information

	Control
	None Available
Considerations for Choosing Controls

Related Strains

Strains carrying   Bmp5^se allele

000578	B6 x STOCK Tyrc-ch Bmp5se +/+ Myo6sv/J
000056	B6.Cg-Bmp5se/J
000285	B6.Cg-Rorasg + +/+ Myo5ad Bmp5se/J
000253	DLS/LeJ
000644	SEA/GnJ
000270	SEC/1GnLeJ

View Strains carrying   Bmp5^se     (6 strains)

Strains carrying   Oca2^p allele

000577	B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
001059	B6By.Cg-Oca2p/J
000619	FS/EiJ
000306	STOCK Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch/J
001618	STOCK Oca2p Prop1df/J

View Strains carrying   Oca2^p     (5 strains)

Strains carrying   Tgfa^wa1 allele

002863

B6.Cg-Tgfawa1/J

View Strains carrying   Tgfa^wa1     (1 strain)

Strains carrying   Tyrp1^b allele

000571	B6.Cg-Whrnwi Tyrp1b/+ +/J
000027	B6.D-Tyrp1b Dock7m/J
000670	DBA/1J
000265	MY/HuLeJ
001045	SI/Col Tyrp1b Dnahc11iv/J
000064	STOCK a Tyrp1b Pmelsi/J
002238	STOCK a Tyrp1b shmy/J
001432	STOCK a/a Tyrp1b sks/Tyrp1b +/J
000594	STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
001101	STOCK T(3;4)5Rk Tyrp1b/J

View Strains carrying   Tyrp1^b     (10 strains)

Strains carrying other alleles of Adamts20

000570

C57BL/6J-Slc45a2uw Adamts20bt-2J/J

View Strains carrying other alleles of Adamts20     (1 strain)

Strains carrying other alleles of Bmp5

001496	B6(Cg)-Bmp5se-4J/J
005348	BALB/cByJ Agtpbp1pcd-3J-Bmp5cfe-se6J/GrsrJ
005420	C;129S7 Gt(ROSA)26Sor-Bmp5cfe-se7J/GrsrJ
005421	CBy;B6-Bmp5cfe-se8J/GrsrJ

View Strains carrying other alleles of Bmp5     (4 strains)

Strains carrying other alleles of Oca2

000090	129S1/Sv-Oca2+ Tyr+ KitlSl-J/J
001279	129T1/Sv-Oca2+ Tyrc-ch Aft/J
000091	129T1/Sv-Oca2+ Tyrc-ch Dnd1Ter/J
000822	B6 x 129S1/SvEi Oca2+ Tyr+-Vsx2or-J/J
000513	C3H/HeJ-Oca2p-J/J
001136	C57BL/6J-Oca2p-un+2J/J
001506	C57BL/6J-Oca2p-un+3J/J
001810	C57BL/6J-Oca2p-un+4J/J
001513	C57BL/6J-Oca2p-un+5J/J
001499	C57BL/6J-Oca2p-un+6J/J
001033	C57BL/6J-Oca2p-un+J/J
000028	C57BL/6J-Oca2p-un/J
000494	J.Cg-Oca2+ Tyr+ Lystbg/J
001584	STOCK Oca2p-J/Oca2p-bs/J
001585	STOCK Oca2p-d/Oca2p-25H/J
000823	STOCK Oca2p-d/Oca2p-6H/J
001747	STOCK Oca2p-d/Oca2p-cp/J

View Strains carrying other alleles of Oca2     (17 strains)

Strains carrying other alleles of Tgfa

002219

B6.129P2-Tgfatm1Ard/J

View Strains carrying other alleles of Tgfa     (1 strain)

Strains carrying other alleles of Tyrp1

000957	AKXD28/TyJ
000093	B6.B10(D1)-Tyrp1b-c/J
008684	B6.Cg-Rag1tm1Mom Tyrp1B-w Tg(Tcra,Tcrb)9Rest/J
017764	B6Ei.LT-Y(IsXPAR;Y)Ei Tyrp1B-lt/EiJ
000068	C57BL/6J-Tyrp1b-J/J
000671	DBA/2J
006252	LT/SvEiJ
002142	STOCK 11R30m/J
000594	STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J

View Strains carrying other alleles of Tyrp1     (9 strains)

Additional Web Information

JAX^® NOTES, Fall 1994; 459. The Waved-1 (wa1) Mutation, Chromosome 6.

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Albinism, Oculocutaneous, Type II; OCA2   (OCA2) Albinism, Oculocutaneous, Type III; OCA3   (TYRP1) Skin/Hair/Eye Pigmentation, Variation In, 11; SHEP11   (TYRP1)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Bmp5^se/Bmp5^se

        Background Not Specified

• hearing/vestibular/ear phenotype
• abnormal ear shape
  • pinna is less regularly curved and exhibits a flattening near the tip of the ear and in the outer margin   (MGI Ref ID J:14849)
• small ears
  • pinna is about one half as long as wild-type and 1-2 mm less broad than in wild-type   (MGI Ref ID J:14849)
• thick ears
  • pinna is usually thick and fleshy   (MGI Ref ID J:14849)
• craniofacial phenotype
• abnormal ear shape
  • pinna is less regularly curved and exhibits a flattening near the tip of the ear and in the outer margin   (MGI Ref ID J:14849)
• small ears
  • pinna is about one half as long as wild-type and 1-2 mm less broad than in wild-type   (MGI Ref ID J:14849)
• thick ears
  • pinna is usually thick and fleshy   (MGI Ref ID J:14849)

Adamts20^bt/Adamts20^bt

        DBA

• pigmentation phenotype
• abnormal hair follicle melanin granule distribution
  • the white spotting appears to be due to a defect in the hair follicles which prevents pigment cells from entering the hair follicles or from developing there   (MGI Ref ID J:12724)
• belted
  • mice have a white band reaching across the back in the midtrunk region which sometimes joins a white belly spot of varying sizes   (MGI Ref ID J:283)
• integument phenotype
• abnormal hair follicle melanin granule distribution
  • the white spotting appears to be due to a defect in the hair follicles which prevents pigment cells from entering the hair follicles or from developing there   (MGI Ref ID J:12724)
• belted
  • mice have a white band reaching across the back in the midtrunk region which sometimes joins a white belly spot of varying sizes   (MGI Ref ID J:283)

Oca2^p/Oca2^p

        Background Not Specified

• pigmentation phenotype
• decreased eye pigmentation   (MGI Ref ID J:2108)
• diluted coat color   (MGI Ref ID J:2108)
• vision/eye phenotype
• decreased eye pigmentation   (MGI Ref ID J:2108)
• integument phenotype
• diluted coat color   (MGI Ref ID J:2108)

Tgfa^wa1/Tgfa^wa1

        Background Not Specified

• vision/eye phenotype
• abnormal corneal stroma development
  • histological preparations of 4 day old mice show enlarged nuclei in this area and there is an infiltration of polymorphonuclear leucocytes   (MGI Ref ID J:13115)
• conjunctivitis
  • one day after birth an inflammatory exudate covers the eye opening and falls away by post partum day 4   (MGI Ref ID J:13115)
  • the exudate is replaced by white excrescence which usually disappears by post partum day 18   (MGI Ref ID J:13115)
• • keratoconjunctivitis
    • infiltrate of polymorphonuclear leucocytes are seen   (MGI Ref ID J:13115)
• corneal opacity
  • incipient opacity diminishes with age   (MGI Ref ID J:13115)
• corneal scarring
  • due to environmental injury caused by eyes being open at birth   (MGI Ref ID J:13115)
• eyelids open at birth
  • one or both eyelids may be open although some mice have normal eyes   (MGI Ref ID J:13115)
• failure of eyelid fusion
  • confirmed by examination of coronal sections of E17 and E18 embryos   (MGI Ref ID J:13115)
• increased corneal stroma thickness
  • seen in histological examination of E17 and E18 mice   (MGI Ref ID J:13115)
• microphthalmia   (MGI Ref ID J:13115)
• immune system phenotype
• conjunctivitis
  • one day after birth an inflammatory exudate covers the eye opening and falls away by post partum day 4   (MGI Ref ID J:13115)
  • the exudate is replaced by white excrescence which usually disappears by post partum day 18   (MGI Ref ID J:13115)
• • keratoconjunctivitis
    • infiltrate of polymorphonuclear leucocytes are seen   (MGI Ref ID J:13115)
• integument phenotype
• abnormal coat/ hair morphology
  • all hair types form loose C-and S-shaped curves, commonly with curved tips   (MGI Ref ID J:15247)
• • abnormal coat appearance
    • affected mice appear abnormal at 7 or 8 days of age   (MGI Ref ID J:15247)
    • newly erupted hair tips on the dorsum incline towards the mid-line rather than straight backwards   (MGI Ref ID J:15247)
  • • abnormal hair texture   (MGI Ref ID J:13034)
    • waved hair
      • obvious at 10 days of age   (MGI Ref ID J:15247)
      • extreme waviness of the first coat is lost in later hair generations but the coat never looks normal   (MGI Ref ID J:15247)
  • abnormal hair shaft morphology
    • there is local rippling most common basally with or without curvature   (MGI Ref ID J:15247)
  • • increased curvature of hairs
      • the result of growth from curved follicles   (MGI Ref ID J:15247)
  • abnormal zigzag hair morphology
    • basal part of these hairs are often thick and the club itself short and squat   (MGI Ref ID J:15247)
    • local septulate areas occur in all three segments   (MGI Ref ID J:15247)
    • in most affected hairs the second and third segments are very short,broad and curved   (MGI Ref ID J:15247)
  • decreased guard hair length   (MGI Ref ID J:15247)
• abnormal hair follicle development
  • follicles grow curved resulting in curvature to the hair   (MGI Ref ID J:15247)
  • curvature in guard hair follicles is extreme at 3 to 4 days of age compared with normal and they grow backwards into the adipose layer   (MGI Ref ID J:15247)
  • follicle arrangement in 5 day old mice is disorganized   (MGI Ref ID J:15247)
• abnormal vibrissa morphology   (MGI Ref ID J:13034)
• • wavy vibrissae
    • recognized between birth and 3 days as shorter and irregularly curved compared with normal   (MGI Ref ID J:15247)
    • most of vibrissae become straighter in older mice   (MGI Ref ID J:15247)

View Research Applications

Research Applications

This mouse can be used to support research in many areas including:

Adamts20^bt related

Cell Biology Research
Protein Processing

Dermatology Research
Color and White Spotting Defects

Bmp5^se related

Developmental Biology Research
Craniofacial and Palate Defects
Growth Defects
Skeletal Defects

Oca2^p related

Dermatology Research
Color and White Spotting Defects

Mouse/Human Gene Homologs
albinism, oculocutaneous type II, OCA2

Neurobiology Research
Angelman syndrome

Tgfa^wa1 related

Cancer Research
Growth Factors/Receptors/Cytokines

Dermatology Research
Skin and Hair Texture Defects

Endocrine Deficiency Research
Skin Defects

Immunology, Inflammation and Autoimmunity Research
Growth Factors/Receptors/Cytokines

Neurobiology Research
Behavioral and Learning Defects

Tyrp1^b related

Dermatology Research
Color and White Spotting Defects

Mouse/Human Gene Homologs
oculocutaneous albinism type III

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Adamts20bt
Allele Name		belted
Allele Type		Spontaneous
Common Name(s)		bt;
Strain of Origin		DBA
Gene Symbol and Name		Adamts20, a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20
Chromosome		15
Gene Common Name(s)		ADAM-TS20; ADAMTS-20; GON-1; belted; bt;
Molecular Note		The mutation was identified as C to T transition at position 1598 that generates a substitution of leucine for proline in the ADAM cysteine-rich domain. [MGI Ref ID J:84755]
Allele Symbol		Bmp5se
Allele Name		short ear
Allele Type		Spontaneous
Common Name(s)		seGnJ;
Strain of Origin		mice from Abbie Lathrop mouse farm
Gene Symbol and Name		Bmp5, bone morphogenetic protein 5
Chromosome		9
Gene Common Name(s)		AU023399; expressed sequence AU023399; se; short ear;
General Note		Phenotypic Similarity to Human Syndrome: Ear, Patella, Short Stature Syndrome (Meier-Gorlin Syndrome) in homozygous mice (J:24474)
Molecular Note		The C to T transition creates a stop codon at amino acid 208. The resulting truncated protein does not include the carboxy terminal signaling portion of the molecule. [MGI Ref ID J:21484]
Allele Symbol		Oca2p
Allele Name		pink-eyed dilution
Allele Type		Spontaneous
Common Name(s)		p;
Strain of Origin		Asiatic fancy mice
Gene Symbol and Name		Oca2, oculocutaneous albinism II
Chromosome		7
Gene Common Name(s)		BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; D7Icr28RN; D7Nic1; DNA segment, Chr 7, Institute for Cancer Research 28RN; DNA segment, Chr 7, Nicholls 1; DNA segment, Chr 7, human D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1; p; pink-eyed dilution;
General Note		p is a very old mutation carried in many varieties of fancy mice (J:12958). It has been suggested that the original mutation occurred in Japanese wild mice, Mus musculus molossinus (J:19782). Homozygotes have pink eyes with pigmentation very much reduced but not completely absent in both the retina and choroid. The black pigment of the hair is very much diluted, but the yellow pigment is only slightly affected. Pigment granules are irregular and shred-like in shape. The small amount of pigment they contain is of wild-type color (J:12970, J:12958). The fine structure of the pigment granules was said by Moyer (J:5001) to be disrupted, but Hearing et al. (J:5346) found the structure to be normal, with premature termination of the melanization process. In tissue culture of the eye, the amount of pigment formed can be increased by increasing the concentration of tyrosine. This suggests that p may block the melanin-synthesizing pathway by interference with tyrosine supply (J:12726). The site of gene action is in the melanocytes and not in either the dermis or the epidermis (J:7988). A presumed p gene has been cloned (J:2206). It was isolated from mouse melanoma and melanocyte libraries and is missing or altered in six independent p mutant alleles (J:2206). By sequence comparison, the human P locus, deletions of which are associated with hypopigmentation, is orthologous to p (J:2206). P maps to Chr 15q, near the Prader--Willi syndrome locus. On the basis of this location, the p mutation has been proposed to provide a mouse model for Prader--Willi syndrome, for Angelman syndrome, for one form of hypomelanosis of Ito (J:3253), and for type II oculocutaneous albinism (J:3600). A small nuclear ribonucleoprotein particle gene Snrpn maps near p and its human ortholog in the homologous Prader--Willi region of human Chromosome 15 (J:3623). Snrpn appears to be a better candidate for the Prader-Willi syndrome ortholog. P is deleted in human type II oculocutaneous albinism, making p a model for this disease (J:3600).
Allele Symbol		Tgfawa1
Allele Name		waved 1
Allele Type		Spontaneous
Common Name(s)		wa-1; waved;
Gene Symbol and Name		Tgfa, transforming growth factor alpha
Chromosome		6
Gene Common Name(s)		RATTGFAA; TFGA; TGFAA; wa-1; wa1; waved 1;
Molecular Note		This allele was identified by a noncomplementation test with Tgfatm1Unc. Although the specific molecular lesion has not been identified, Northern blot analysis revealed that expression of TGFalpha transcript was reduced in homozygous mice. [MGI Ref ID J:4605]
Allele Symbol		Tyrp1b
Allele Name		brown
Allele Type		Spontaneous
Common Name(s)		b;
Strain of Origin		old mutant of the mouse fancy
Gene Symbol and Name		Tyrp1, tyrosinase-related protein 1
Chromosome		4
Gene Common Name(s)		B; CAS2; CATB; GP75; OCA3; TRP; TRP-1; TRP1; TYRP; Tyrp; b; b-PROTEIN; brown; iris stromal atrophy; isa; tyrosinase-related protein;
Molecular Note		A G-to-A transition point mutation at position 329 was shown by revertant analysis to be responsible for the mutant phenotype seen in the brown mutant. This mutation is predicted to change a cysteine residue to a tyrosine in the encoded protein. Three other point mutations in the brown sequence were identified, but do not contribute to the mutant phenotype. [MGI Ref ID J:44435]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Legare ME; Frankel WN. 2000. Multiple seizure susceptibility genes on chromosome 7 in SWXL-4 congenic mouse strains Genomics 70(1):62-5. [PubMed: 11087662]  [MGI Ref ID J:66159]

Luetteke NC; Qiu TH; Peiffer RL; Oliver P; Smithies O; Lee DC. 1993. TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice. Cell 73(2):263-78. [PubMed: 8477445]  [MGI Ref ID J:4605]

Mann GB; Fowler KJ; Gabriel A; Nice EC; Williams RL; Dunn AR. 1993. Mice with a null mutation of the TGF alpha gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation. Cell 73(2):249-61. [PubMed: 8477444]  [MGI Ref ID J:4606]

Rao C; Foernzler D; Loftus SK; Liu S; McPherson JD; Jungers KA; Apte SS; Pavan WJ; Beier DR. 2003. A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation. Development 130(19):4665-72. [PubMed: 12925592]  [MGI Ref ID J:84755]

Adamts20^bt related

Hauschka TS; Jacobs BB; Holdridge BA. 1968. Recessive yellow and its interaction with belted in the mouse. J Hered 59(6):339-41. [PubMed: 5713933]  [MGI Ref ID J:5110]

Mayer TC; Maltby EL. 1964. An experimental investigation of pattern development in lethal spotting and belted mouse embryos. Dev Biol 9:269-86. [PubMed: 14138974]  [MGI Ref ID J:12724]

Murray JM; Snell GD. 1945. Belted, a new sixth chromosome mutation in the mouse J Hered 36:266-8.  [MGI Ref ID J:283]

Rao C; Foernzler D; Loftus SK; Liu S; McPherson JD; Jungers KA; Apte SS; Pavan WJ; Beier DR. 2003. A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation. Development 130(19):4665-72. [PubMed: 12925592]  [MGI Ref ID J:84755]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

The Jackson Laboratory Office of Genetic Resources. 1993. Registry of Remutations at The Jackson Laboratory MGI Direct Data Submission :.  [MGI Ref ID J:78381]

Bmp5^se related

Cattanach BM. 1961. A chemically-induced variegated-type position effect in the mouse. Z Vererbungsl 92:165-82. [PubMed: 13877379]  [MGI Ref ID J:160128]

Deol MS; Green MC. 1966. Snell's waltzer, a new mutation affecting behaviour and the inner ear in the mouse. Genet Res 8(3):339-45. [PubMed: 5980120]  [MGI Ref ID J:5044]

DiLeone RJ; Russell LB; Kingsley DM. 1998. An extensive 3' regulatory region controls expression of Bmp5 in specific anatomical structures of the mouse embryo. Genetics 148(1):401-8. [PubMed: 9475750]  [MGI Ref ID J:45426]

GREEN MC. 1958. Effects of the short ear gene in the mouse on cartilage formation in healing bone fractures. J Exp Zool 137(1):75-88. [PubMed: 13563786]  [MGI Ref ID J:13011]

Green EL; Green MC. 1946. Effect of the short ear gene on number of ribs and presacral vertebrae in the house mouse Am Naturalist 80:619-25.  [MGI Ref ID J:100198]

Green EL; Green MC. 1942. The development of three manifestations of the short ear gene in the mouse J Morphol 70:1-19.  [MGI Ref ID J:15478]

Green MC. 1951. Further morphological effects of the short ear gene in the house mouse. J Morphol 88:1-22.  [MGI Ref ID J:13091]

Green MC. 1968. Mechanism of the pleiotropic effects of the short-ear mutant gene in the mouse. J Exp Zool 167(2):129-50. [PubMed: 5692092]  [MGI Ref ID J:5086]

Johnson DR. 1976. The interfrontal bone and mutant genes in the mouse. J Anat 121(3):507-13. [PubMed: 1018005]  [MGI Ref ID J:5776]

Jones JM; Huang JD; Mermall V; Hamilton BA; Mooseker MS; Escayg A; Copeland NG; Jenkins NA; Meisler MH. 2000. The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Hum Mol Genet 9(5):821-8. [PubMed: 10749990]  [MGI Ref ID J:61324]

Kangsamaksin T; Morris RJ. 2011. Bone morphogenetic protein 5 regulates the number of keratinocyte stem cells from the skin of mice. J Invest Dermatol 131(3):580-5. [PubMed: 21179110]  [MGI Ref ID J:182086]

Katagiri T; Boorla S; Frendo JL; Hogan BL; Karsenty G. 1998. Skeletal abnormalities in doubly heterozygous Bmp4 and Bmp7 mice. Dev Genet 22(4):340-8. [PubMed: 9664686]  [MGI Ref ID J:48538]

King JA; Marker PC; Seung KJ; Kingsley DM. 1994. BMP5 and the molecular, skeletal, and soft-tissue alterations in short ear mice. Dev Biol 166(1):112-22. [PubMed: 7958439]  [MGI Ref ID J:21484]

Kingsley DM; Bland AE; Grubber JM; Marker PC; Russell LB; Copeland NG; Jenkins NA. 1992. The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGF beta superfamily. Cell 71(3):399-410. [PubMed: 1339316]  [MGI Ref ID J:3046]

Lacombe D; Toutain A; Gorlin RJ; Oley CA; Battin J. 1994. Clinical identification of a human equivalent to the short ear (se) murine phenotype. Ann Genet 37(4):184-91. [PubMed: 7710253]  [MGI Ref ID J:24474]

Lynch CJ. 1921. Short ears, an autosomal mutation in the house mouse Am Naturalist 55:421-426.  [MGI Ref ID J:14849]

Nadeau JH. 2001. Modifier genes in mice and humans. Nat Rev Genet 2(3):165-74. [PubMed: 11256068]  [MGI Ref ID J:88013]

Oak Ridge National Laboratory. 2005. Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN Unpublished :.  [MGI Ref ID J:100221]

Pfendler KC; Yoon J; Taborn GU; Kuehn MR; Iannaccone PM. 2000. Nodal and bone morphogenetic protein 5 interact in murine mesoderm formation and implantation. Genesis 28(1):1-14. [PubMed: 11020711]  [MGI Ref ID J:65690]

Russell LB. 1971. Definition of functional units in a small chromosomal segment of the mouse and its use in interpreting the nature of radiation-induced mutations. Mutat Res 11(1):107-23. [PubMed: 5556347]  [MGI Ref ID J:12013]

Sloane JA; Vartanian TK. 2007. Myosin Va controls oligodendrocyte morphogenesis and myelination. J Neurosci 27(42):11366-75. [PubMed: 17942731]  [MGI Ref ID J:126066]

Solloway MJ; Dudley AT; Bikoff EK; Lyons KM; Hogan BL; Robertson EJ. 1998. Mice lacking Bmp6 function. Dev Genet 22(4):321-39. [PubMed: 9664685]  [MGI Ref ID J:48561]

Solloway MJ; Robertson EJ. 1999. Early embryonic lethality in Bmp5;Bmp7 double mutant mice suggests functional redundancy within the 60A subgroup. Development 126(8):1753-68. [PubMed: 10079236]  [MGI Ref ID J:53294]

The Mammalian Genetics Unit at Harwell. 2004. Information obtained from the Mammalian Genetics Unit, Medical Research Council (MRC), Harwell, UK Unpublished :.  [MGI Ref ID J:90559]

Tilleman H; Hakim V; Novikov O; Liser K; Nashelsky L; Di Salvio M; Krauthammer M; Scheffner O; Maor I; Mayseless O; Meir I; Kayam G; Sela-Donenfeld D; Simeone A; Brodski C. 2010. Bmp5/7 in concert with the mid-hindbrain organizer control development of noradrenergic locus coeruleus neurons. Mol Cell Neurosci 45(1):1-11. [PubMed: 20493948]  [MGI Ref ID J:171333]

Oca2^p related

Brilliant MH; Ching A; Nakatsu Y; Eicher EM. 1994. The original pink-eyed dilution mutation (p) arose in Asiatic mice: implications for the H4 minor histocompatibility antigen, Myod1 regulation and the origin of inbred strains. Genetics 138(1):203-11. [PubMed: 8001787]  [MGI Ref ID J:19782]

Cattanach BM. 1961. A chemically-induced variegated-type position effect in the mouse. Z Vererbungsl 92:165-82. [PubMed: 13877379]  [MGI Ref ID J:160128]

Clement Y; Prut L; Saurini F; Mineur YS; Le Guisquet AM; Vedrine S; Andres C; Vodjdani G; Belzung C. 2012. Gabra5-gene haplotype block associated with behavioral properties of the full agonist benzodiazepine chlordiazepoxide. Behav Brain Res 233(2):474-82. [PubMed: 22677273]  [MGI Ref ID J:190469]

Cook MN; Dunning JP; Wiley RG; Chesler EJ; Johnson DK; Miller DR; Goldowitz D. 2007. Neurobehavioral mutants identified in an ENU-mutagenesis project. Mamm Genome 18(8):559-72. [PubMed: 17629744]  [MGI Ref ID J:125716]

Feldman HW. 1924. Linkage of Albino Allelomorphs in Rats and Mice. Genetics 9(5):487-92. [PubMed: 17246054]  [MGI Ref ID J:93]

Gardner JM; Nakatsu Y; Gondo Y; Lee S; Lyon MF; King RA; Brilliant MH. 1992. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257(5073):1121-4. [PubMed: 1509264]  [MGI Ref ID J:2206]

Gruneberg H. 1952. . In: The Genetics of the Mouse. Martinus Nijhoff, The Hague.  [MGI Ref ID J:30758]

Haldane JBS; Sprunt AD; Haldane NM. 1915. Reduplication in mice J Genet 5:133-135.  [MGI Ref ID J:100]

Lyon MF. 1963. Attempts to test the inactive-X theory of dosage compensation in mammals Genet Res 4:93-103.  [MGI Ref ID J:272]

Lyon MF; King TR; Gondo Y; Gardner JM; Nakatsu Y; Eicher EM; Brilliant MH. 1992. Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse. Proc Natl Acad Sci U S A 89(15):6968-72. [PubMed: 1495987]  [MGI Ref ID J:2108]

Markert CL; Silvers WK. 1956. The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics 41(3):429-50. [PubMed: 17247639]  [MGI Ref ID J:12970]

Medical Research Council (MRC) Harwell. 2012. Direct Data Submission 2012/01/19 MGI Direct Data Submission :.  [MGI Ref ID J:179354]

Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821]  [MGI Ref ID J:29467]

Moyer FH. 1966. Genetic variations in the fine structure and ontogeny of mouse melanin granules. Am Zool 6(1):43-66. [PubMed: 5902512]  [MGI Ref ID J:5001]

Oak Ridge National Laboratory. 2005. Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN Unpublished :.  [MGI Ref ID J:100221]

PIERRO LJ; CHASE HB. 1963. Slate--a new coat color mutant in the mouse. J Hered 54:47-50. [PubMed: 13943454]  [MGI Ref ID J:25388]

Pierro LJ; Chase HB. 1965. Temporary hair loss associated with the slate mutation of coat colour in the mouse Nature 205:579-580.  [MGI Ref ID J:83269]

Quevedo WC Jr.; Chase HB. 1958. An analysis of the light mutation of coat color in mice. J Morphol 102:329-345.  [MGI Ref ID J:13094]

RUSSELL ES. 1949. A quantitative histological study of the pigment found in the coat-color mutants of the house mouse; interdependence among the variable granule attributes. Genetics 34(2):133-45. [PubMed: 18117146]  [MGI Ref ID J:148461]

Rinchik EM; Bultman SJ; Horsthemke B; Lee ST; Strunk KM; Spritz RA; Avidano KM; Jong MT; Nicholls RD. 1993. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361(6407):72-6. [PubMed: 8421497]  [MGI Ref ID J:3600]

Russell ES. 1948. A Quantitative Histological Study of the Pigment Found in the Coat Color Mutants of the House Mouse. II. Estimates of the Total Volume of Pigment. Genetics 33(3):228-36. [PubMed: 17247280]  [MGI Ref ID J:148462]

Russell ES. 1946. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. I. Variable Attributes of the Pigment Granules. Genetics 31(3):327-46. [PubMed: 17247200]  [MGI Ref ID J:148463]

Russell ES. 1949. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. IV. the Nature of the Effects of Genic Substitution in Five Major Allelic Series. Genetics 34(2):146-66. [PubMed: 17247308]  [MGI Ref ID J:12958]

Russell LB; Montgomery CS; Cacheiro NL; Johnson DK. 1995. Complementation analyses for 45 mutations encompassing the pink-eyed dilution (p) locus of the mouse. Genetics 141(4):1547-62. [PubMed: 8601493]  [MGI Ref ID J:29903]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

Wakamatsu K; Hirobe T; Ito S. 2007. High levels of melanin-related metabolites in plasma from pink-eyed dilution mice. Pigment Cell Res 20(3):222-4. [PubMed: 17516930]  [MGI Ref ID J:148667]

Tgfa^wa1 related

BENNETT JH; GRESHAM GA. 1956. A gene for eyelids open at birth in the house mouse. Nature 178(4527):272-3. [PubMed: 13358719]  [MGI Ref ID J:13115]

Bollee G; Flamant M; Schordan S; Fligny C; Rumpel E; Milon M; Schordan E; Sabaa N; Vandermeersch S; Galaup A; Rodenas A; Casal I; Sunnarborg SW; Salant DJ; Kopp JB; Threadgill DW; Quaggin SE; Dussaule JC; Germain S; Mesnard L; Endlich K; Boucheix C; Belenfant X; Callard P; Endlich N; Tharaux PL. 2011. Epidermal growth factor receptor promotes glomerular injury and renal failure in rapidly progressive crescentic glomerulonephritis. Nat Med 17(10):1242-50. [PubMed: 21946538]  [MGI Ref ID J:177277]

Burrows RC; Levitt P; Shors TJ. 2000. Postnatal decrease in transforming growth factor alpha is associated with enlarged ventricles, deficient amygdaloid vasculature and performance deficits Neuroscience 96(4):825-36. [PubMed: 10727800]  [MGI Ref ID J:61241]

Crew FAE. 1933. Waved: an autosomal recessive coat form character in the mouse. J Genet 27:95-96.  [MGI Ref ID J:13034]

Egger B; Procaccino F; Lakshmanan J; Reinshagen M; Hoffmann P ; Patel A ; Reuben W ; Gnanakkan S ; Liu L ; Barajas L ; Eysselein VE. 1997. Mice lacking transforming growth factor alpha have an increased susceptibility to dextran sulfate-induced colitis. Gastroenterology 113(3):825-32. [PubMed: 9287974]  [MGI Ref ID J:43892]

Enwere E; Shingo T; Gregg C; Fujikawa H; Ohta S; Weiss S. 2004. Aging results in reduced epidermal growth factor receptor signaling, diminished olfactory neurogenesis, and deficits in fine olfactory discrimination. J Neurosci 24(38):8354-65. [PubMed: 15385618]  [MGI Ref ID J:109773]

Hogan ME; King LE Jr; Sundberg JP. 1995. Defects of pelage hairs in 20 mouse mutations. J Invest Dermatol 104(5 Suppl):31S-32S. [PubMed: 7738386]  [MGI Ref ID J:25255]

Kiguchi K; Beltran L; Dubowski A; DiGiovanni J. 1997. Analysis of the ability of 12-O-tetradecanoylphorbol-13-acetate to induce epidermal hyperplasia, transforming growth factor-alpha, and skin tumor promotion in wa-1 mice. J Invest Dermatol 108(5):784-91. [PubMed: 9129233]  [MGI Ref ID J:40006]

Koshibu K; Ahrens ET; Levitt P. 2005. Postpubertal sex differentiation of forebrain structures and functions depend on transforming growth factor-alpha. J Neurosci 25(15):3870-80. [PubMed: 15829639]  [MGI Ref ID J:98612]

Koshibu K; Levitt P. 2005. Sex differences in expression of transforming growth factor-alpha and epidermal growth factor receptor mRNA in Waved-1 and C57Bl6 mice. Neuroscience 134(3):877-87. [PubMed: 15994019]  [MGI Ref ID J:104427]

Lemarie CA; Tharaux PL; Esposito B; Tedgui A; Lehoux S. 2006. Transforming growth factor-alpha mediates nuclear factor kappaB activation in strained arteries. Circ Res 99(4):434-41. [PubMed: 16857964]  [MGI Ref ID J:124859]

Luetteke NC; Qiu TH; Peiffer RL; Oliver P; Smithies O; Lee DC. 1993. TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice. Cell 73(2):263-78. [PubMed: 8477445]  [MGI Ref ID J:4605]

Mine N; Iwamoto R; Mekada E. 2005. HB-EGF promotes epithelial cell migration in eyelid development. Development 132(19):4317-26. [PubMed: 16141218]  [MGI Ref ID J:101734]

Trigg MJ. 1972. Hair growth in mouse mutants affecting coat texture. J Zool 168:165-198.  [MGI Ref ID J:15247]

Tropepe V; Craig CG; Morshead CM; van der Kooy D. 1997. Transforming growth factor-alpha null and senescent mice show decreased neural progenitor cell proliferation in the forebrain subependyma. J Neurosci 17(20):7850-9. [PubMed: 9315905]  [MGI Ref ID J:43465]

Weickert CS; Blum M. 1995. Striatal TGF-alpha: postnatal developmental expression and evidence for a role in the proliferation of subependymal cells. Brain Res Dev Brain Res 86(1-2):203-16. [PubMed: 7656413]  [MGI Ref ID J:25958]

Tyrp1^b related

Anderson MG; Libby RT; Mao M; Cosma IM; Wilson LA; Smith RS; John SW. 2006. Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma. BMC Biol 4:20. [PubMed: 16827931]  [MGI Ref ID J:128215]

Anderson MG; Nair KS; Amonoo LA; Mehalow A; Trantow CM; Masli S; John SW. 2008. GpnmbR150X allele must be present in bone marrow derived cells to mediate DBA/2J glaucoma. BMC Genet 9:30. [PubMed: 18402690]  [MGI Ref ID J:134670]

Barabas P; Huang W; Chen H; Koehler CL; Howell G; John SW; Tian N; Renteria RC; Krizaj D. 2011. Missing optomotor head-turning reflex in the DBA/2J mouse. Invest Ophthalmol Vis Sci 52(9):6766-73. [PubMed: 21757588]  [MGI Ref ID J:181395]

Brooks BP; Larson DM; Chan CC; Kjellstrom S; Smith RS; Crawford MA; Lamoreux L; Huizing M; Hess R; Jiao X; Hejtmancik JF; Maminishkis A; John SW; Bush R; Pavan WJ. 2007. Analysis of ocular hypopigmentation in Rab38cht/cht mice. Invest Ophthalmol Vis Sci 48(9):3905-13. [PubMed: 17724166]  [MGI Ref ID J:124886]

Cattanach BM. 1961. A chemically-induced variegated-type position effect in the mouse. Z Vererbungsl 92:165-82. [PubMed: 13877379]  [MGI Ref ID J:160128]

Center EM; Hunter RL; Dodge AH. 1967. Effects of the luxoid gene (lu) on liver esterase isozymes of the mouse. Genetics 55(2):349-58. [PubMed: 6067640]  [MGI Ref ID J:109970]

Coleman DL. 1962. Effect of genic substitution on the incorporation of tyrosine into the melanin of mouse skin. Arch Biochem Biophys 96:562-8. [PubMed: 13880466]  [MGI Ref ID J:12173]

Gajewska M; Krysiak E; Wirth-Dziecialowska E. 2010. New coat color mutation mapped in distal part MMU10 MGI Direct Data Submission :.  [MGI Ref ID J:162146]

Gruneberg H. 1952. . In: The Genetics of the Mouse. Martinus Nijhoff, The Hague.  [MGI Ref ID J:30758]

Hearing VJ; Phillips P; Lutzner MA. 1973. The fine structure of melanogenesis in coat color mutants of the mouse. J Ultrastruct Res 43(1):88-106. [PubMed: 4634048]  [MGI Ref ID J:5346]

Howell GR; Libby RT; Jakobs TC; Smith RS; Phalan FC; Barter JW; Barbay JM; Marchant JK; Mahesh N; Porciatti V; Whitmore AV; Masland RH; John SW. 2007. Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucoma. J Cell Biol 179(7):1523-37. [PubMed: 18158332]  [MGI Ref ID J:131073]

Hunsicker PR. 1969. White-based brown, B<W> Mouse News Lett 40:41.  [MGI Ref ID J:13492]

Kelly EM. 1957. Beige, bg Mouse News Lett 16:36.  [MGI Ref ID J:29744]

Kobayashi T; Imokawa G; Bennett DC; Hearing VJ. 1998. Tyrosinase stabilization by Tyrp1 (the brown locus protein). J Biol Chem 273(48):31801-5. [PubMed: 9822646]  [MGI Ref ID J:51301]

Lamoreux ML; Wakamatsu K; Ito S. 2001. Interaction of major coat color gene functions in mice as studied by chemical analysis of eumelanin and pheomelanin. Pigment Cell Res 14(1):23-31. [PubMed: 11277491]  [MGI Ref ID J:103803]

Little CC. 1916. The occurrence of three recognized coat mutations in mice Am Naturalist 1:335-349.  [MGI Ref ID J:150254]

Manor U; Disanza A; Grati M; Andrade L; Lin H; Di Fiore PP; Scita G; Kachar B. 2011. Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8. Curr Biol 21(2):167-72. [PubMed: 21236676]  [MGI Ref ID J:171832]

Markert CL; Silvers WK. 1956. The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics 41(3):429-50. [PubMed: 17247639]  [MGI Ref ID J:12970]

Matheu A; Pantoja C; Efeyan A; Criado LM; Martin-Caballero J; Flores JM; Klatt P; Serrano M. 2004. Increased gene dosage of Ink4a/Arf results in cancer resistance and normal aging. Genes Dev 18(22):2736-46. [PubMed: 15520276]  [MGI Ref ID J:93879]

Medical Research Council (MRC) Harwell. 2012. Direct Data Submission 2012/03/01 MGI Direct Data Submission :.  [MGI Ref ID J:180879]

Moyer FH. 1966. Genetic variations in the fine structure and ontogeny of mouse melanin granules. Am Zool 6(1):43-66. [PubMed: 5902512]  [MGI Ref ID J:5001]

Murray WS. 1934. The breeding behavior of the dilute brown stock of mice (Little dba) Am J Cancer 20:573-593.  [MGI Ref ID J:2464]

Oak Ridge National Laboratory. 2005. Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN Unpublished :.  [MGI Ref ID J:100221]

RIKEN BioResource Center/RIKEN Genomic Sciences Center. 2008. A Large Scale Mutagenesis Program in RIKEN GSC PhenoSITE, World Wide Web (URL: http://www.brc.riken.jp/lab/gsc/mouse/) :.  [MGI Ref ID J:133634]

RUSSELL ES. 1949. A quantitative histological study of the pigment found in the coat-color mutants of the house mouse; interdependence among the variable granule attributes. Genetics 34(2):133-45. [PubMed: 18117146]  [MGI Ref ID J:148461]

Raymond S; Jackson IJ. 1994. Molecular characterization of the mouse B<w> mutation causing premature melanocyte death - melanocytes and early development Genet Res 63(2):155 (Abstr).  [MGI Ref ID J:18590]

Rittenhouse E. 1968. Genetic effect on fine structure and development of pigment granules in mouse hair bulb melanocytes. I. The b and d loci. Dev Biol 17(4):351-65. [PubMed: 5650006]  [MGI Ref ID J:5068]

Russell ES. 1948. A Quantitative Histological Study of the Pigment Found in the Coat Color Mutants of the House Mouse. II. Estimates of the Total Volume of Pigment. Genetics 33(3):228-36. [PubMed: 17247280]  [MGI Ref ID J:148462]

Russell ES. 1946. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. I. Variable Attributes of the Pigment Granules. Genetics 31(3):327-46. [PubMed: 17247200]  [MGI Ref ID J:148463]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

Smyth IM; Wilming L; Lee AW; Taylor MS; Gautier P; Barlow K; Wallis J; Martin S; Glithero R; Phillimore B; Pelan S; Andrew R; Holt K; Taylor R; McLaren S; Burton J; Bailey J; Sims S; Squares J; Plumb B; Joy A; Gibson R; Gilbert J; Hart E; Laird G; Loveland J; Mudge J; Steward C; Swarbreck D; Harrow J; North P; Leaves N; Greystrong J; Coppola M; Manjunath S; Campbell M; Smith M; Strachan G; Tofts C; Boal E; Cobley V; Hunter G; Kimberley C; Thomas D; Cave-Berry L; Weston P; Botcherby MR; White S; Edgar R; C. 2006. Genomic anatomy of the Tyrp1 (brown) deletion complex. Proc Natl Acad Sci U S A 103(10):3704-9. [PubMed: 16505357]  [MGI Ref ID J:107243]

Sweet SE; Quevedo WC Jr. 1968. Role of melanocyte morphology in pigmentation of mouse hair. Anat Rec 162(2):243-54. [PubMed: 5726144]  [MGI Ref ID J:5095]

Trantow CM; Cuffy TL; Fingert JH; Kuehn MH; Anderson MG. 2011. Microarray analysis of iris gene expression in mice with mutations influencing pigmentation. Invest Ophthalmol Vis Sci 52(1):237-48. [PubMed: 20739468]  [MGI Ref ID J:171565]

Zdarsky E; Favor J; Jackson IJ. 1990. The molecular basis of brown, an old mouse mutation, and of an induced revertant to wild type. Genetics 126(2):443-9. [PubMed: 2245916]  [MGI Ref ID J:44435]

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Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

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This strain is homozygous for Adamts20^bt, Bmp5^se and Tgfa^wa1.

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